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5 articles related to "Hypomorphic Variants"

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Articles

Case Report

Published on 15 Mar 2019

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

in Red Blood Cell Physiology

Immacolata Andolfo
Gianluca De Rosa
Edoardo Errichiello
Francesco Manna
Barbara Eleni Rosato
Antonella Gambale
Annalisa Vetro
Valeria Calcaterra
Gloria Pelizzo
Lucia De Franceschi

Frontiers in Physiology

doi 10.3389/fphys.2019.00258

8,376 views
37 citations

Original Research

Published on 18 Mar 2025

Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia

in T Cell Biology

Andrea González-Torbay
Keren Reche-Yebra
Álvaro Clemente-Bernal
Yolanda Soto Serrano
Luz Yadira Bravo-Gallego
Almudena Fernández López
Rebeca Rodríguez-Pena
María Bravo García-Morato
Eduardo López-Granados
Lucía del Pino-Molina

Frontiers in Immunology

doi 10.3389/fimmu.2025.1544863

3,054 views
1 citation

Case Report

Published on 16 Apr 2019

Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency

in Pediatric Immunology

Mayra B. Dorna
Pamela F. A. Barbosa
Andréia Rangel-Santos
Krisztian Csomos
Boglarka Ujhazi
Joseph F. Dasso
Daniel Thwaites
Joan Boyes
Sinisa Savic
Jolan E. Walter

Frontiers in Pediatrics

doi 10.3389/fped.2019.00122

5,509 views
10 citations

Original Research

Published on 30 Jan 2024

Lithium: effects in animal models of vanishing white matter are not promising

in Translational Neuroscience

Diede Witkamp
Ellen Oudejans
Leoni Hoogterp
Gino V. Hu-A-Ng
Kathryn A. Glaittli
Tamara J. Stevenson
Marleen Huijsmans
Truus E. M. Abbink
Marjo S. van der Knaap
Joshua L. Bonkowsky

Frontiers in Neuroscience

doi 10.3389/fnins.2024.1275744

3,368 views
2 citations

Case Report

Published on 21 May 2019

Systemic Epstein–Barr Virus-Positive T/NK Lymphoproliferative Diseases With SH2D1A/XIAP Hypomorphic Gene Variants

in Pediatric Immunology

Masataka Ishimura
Katsuhide Eguchi
Akira Shiraishi
Motoshi Sonoda
Yoshihiro Azuma
Hiroyuki Yamamoto
Ken-ichi Imadome
Shouichi Ohga

Frontiers in Pediatrics

doi 10.3389/fped.2019.00183

9,016 views
31 citations